Homozygosity and severity of phenotypic presentation in a CADASIL family

A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain

(2013) Bing-Wen Soong et al.   Journal of the Chinese Medical Association

“CADASIL coma” in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation

(2013) Michele Ragno et al.   NEUROLOGICAL SCIENCES

Hereditary cerebral small vessel diseases: A review

(2012) Antonio Federico et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Abnormal morphology of peripheral cell tissues from patients with Huntington disease

(2009) Ferdinando Squitieri et al.   JOURNAL OF NEURAL TRANSMISSION

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms

(2009) M. K. Liem et al.   JOURNAL OF NEUROLOGY

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY